CCDC18

coiled-coil domain containing 18

Basic information

Region (hg38): 1:93179919-93278730

Links

ENSG00000122483NCBI:343099HGNC:30370Uniprot:Q5T9S5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC18 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
6
clinvar
7
clinvar
13
missense
57
clinvar
7
clinvar
8
clinvar
72
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
1
1
2
non coding
1
clinvar
1
clinvar
2
Total 0 0 57 15 16

Variants in CCDC18

This is a list of pathogenic ClinVar variants found in the CCDC18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-93180063-G-C not specified Uncertain significance (Apr 27, 2022)2286461
1-93183447-T-C not specified Uncertain significance (Mar 18, 2024)3264115
1-93183478-A-G CCDC18-related disorder Likely benign (Mar 28, 2019)3048946
1-93183978-T-A not specified Uncertain significance (Dec 27, 2023)3138910
1-93183988-A-C not specified Uncertain significance (Jan 04, 2024)3138911
1-93183989-G-A not specified Uncertain significance (Sep 14, 2023)2624258
1-93184012-A-G not specified Uncertain significance (Jan 31, 2024)3138916
1-93184129-A-G not specified Uncertain significance (Jan 02, 2024)3138925
1-93186365-T-C CCDC18-related disorder Benign (Dec 31, 2019)783939
1-93186414-C-G not specified Uncertain significance (May 09, 2024)3264118
1-93186450-T-A not specified Uncertain significance (Dec 19, 2022)2336816
1-93186500-A-G CCDC18-related disorder Likely benign (Oct 28, 2019)3034365
1-93192024-C-G not specified Uncertain significance (Jul 14, 2021)2236972
1-93192057-C-A not specified Uncertain significance (Apr 18, 2023)2538462
1-93192115-A-G CCDC18-related disorder Benign (Jun 05, 2019)3043777
1-93193716-T-G not specified Uncertain significance (Dec 20, 2023)3138932
1-93201936-T-C not specified Uncertain significance (Oct 26, 2021)2257362
1-93205610-A-G not specified Uncertain significance (May 01, 2024)3264111
1-93207131-C-T CCDC18-related disorder Benign (Oct 21, 2019)3060341
1-93207166-A-C CCDC18-related disorder Benign (Oct 21, 2019)3060557
1-93207257-C-A not specified Likely benign (Oct 13, 2023)3138907
1-93207269-A-C not specified Uncertain significance (Jun 03, 2024)3264119
1-93207270-A-G not specified Uncertain significance (Dec 21, 2022)2208280
1-93207283-G-A not specified Uncertain significance (Jan 23, 2023)2458988
1-93207298-G-A not specified Uncertain significance (Aug 17, 2022)2308170

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC18protein_codingprotein_codingENST00000370276 2998812
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.96e-370.0055412444413491247940.00140
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.615877080.8300.000033310021
Missense in Polyphen173193.470.894173166
Synonymous0.9522262450.9230.00001162519
Loss of Function1.806784.90.7890.000004131147

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002330.00231
Ashkenazi Jewish0.0001000.0000993
East Asian0.002710.00251
Finnish0.0007000.000696
European (Non-Finnish)0.0007820.000759
Middle Eastern0.002710.00251
South Asian0.005100.00478
Other0.001240.00115

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0956

Haploinsufficiency Scores

pHI
0.105
hipred
hipred_score
ghis
0.563

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.0215

Mouse Genome Informatics

Gene name
Ccdc18
Phenotype